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Amyotrophic Lateral Sclerosis - ALS / Motor Neuron Disease

Amyotrophic Lateral Sclerosis - ALS / Motor Neuron Disease

This is a group of diseases of unknown etiology that affect the nerves of the brain, brain stem and spinal cord that control voluntary movements and leads to the loss of the ability to transmit nerve signals from the above organs to the muscles. There are indications of genetic (gene mutations) and environmental factors such as exposure to toxic substances, trauma, diet, unknown viruses - pathogens, behavioral and occupational factors or even autoimmune mechanisms. Its progress is rapid and affects life expectancy. It occurs 20% more often in men, and usually its symptoms occur between the ages of 55-75 years. In Europe and the United States the disease affects 2-3 people / 100,000. 90-95% of cases are sporadic, ie there is no family history or exposure to risk factors. About 5-10% of the remaining cases are autosomal hereditary, either dominant or recessive. If the pattern is dominant, the symptoms become evident from adolescence or adulthood, whereas in the recessive cases, the symptoms occur from childhood or adolescence.

 

The progression of the disease appears to be slowed down in people who experience symptoms at younger ages of 40, slightly obese, with a disorder restricted to one lower limb and those with symptoms of higher motor neurons.

 

Symptoms

  • Muscle contractures in arms, feet, shoulders or tongue.
  • Muscle cramps (especially at night).
  • Hard and stiff muscles.
  • Muscular weakness and atrophy in the hands, feet, throat and diaphragm, leading to problems of fine motor skills, falls.
  • Speech problems.
  • Difficulties in chewing, swallowing, leading to weight loss, difficulty in movement and breathing, leading to risk of respiratory infections, aspiration and respiratory failure.

 

Diagnosis

  • Clinical examination.
  • Genetic tests.
  • Electromyography.
  • Nerve transduction speed.
  • Axial and magnetic tomography, X-rays.
  • Blood and urine tests.
  • Muscle biopsy.
  • Myelograph of cervical area.
  • Lumbar puncture.

 

Management

There is no cure, but treatment of individual symptoms with appropriate medication, physiotherapy, occupational therapy, speech therapy, nutritional support (even with suction devices and feeding tubes), respiratory support (oxygen masks, respirators, cough devices), use of speech aids and movement.

 

Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/?View=A and https://clinicaltrials.gov/ct2/home

 

References

  • Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, U.S. Department of Health and Human Services, National Institute of Neurological Disorders and Stroke, https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet
  • NORD (National Organization for Rare Disorders), Rare diseases, Amyotrophic Lateral Sclerosis, https://rarediseases.org/rare-diseases/amyotrophic-lateral-sclerosis/
  • Symptoms and Diagnosis, ALSA.org, http://www.alsa.org/about-als/symptoms.html?referrer=https://www.google.gr/
  • Vanessa S. Boyce, Lorne M. Mendell, Neurotrophins and spinal circuit function, Frontiers in Neural Circuits, Frontiers Media S.A., 2014.
  • Tai H, Cui L, Guan Y, Liu M, Li X, Huang Y, Yuan J, Shen D, Li D and Zhai F, Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Review of Two Cases and the Associated Literature. Front. Neurol, 2017, 8, 218.
  • Camparani, M.L., Garcia-Ayllon M.S., Ciura, S., Saez-Valero, J., Kabashi, E., Neuromuscular Junction impairement in amyotrophic lateral sclerosis: reassessing the role in acetylcholinesterase, Front Mol. Neurosci., 2016, 9, 160.
  • Ng, L., Khan, F., Young, C.A., Galea, M., Symptomastic  treatments for amyotrophic lateral sclerosis/motor neuron disease, Cochrane Database Syst. Rev., 2017.
  • Vanessa S. Boyce, Lorne M. Mendell, Neurotrophins and spinal circuit function, Frontiers in Neural Circuits, Frontiers Media S.A., 2014.
  • Lenglet, T., Camdessanche, j.P., Amyotrophic lateral sclerosis or not: keys for the diagnosis, J. Neurol., 2017, 173950, pp. 280-287.
  • Tai H, Cui L, Guan Y, Liu M, Li X, Huang Y, Yuan J, Shen D, Li D and Zhai F, Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Review of Two Cases and the Associated Literature. Front. Neurol, 2017, 8, 218. 

 

Muscular Dystrophy Association